CY1122360T1 - METHOD FOR THE DIAGNOSIS OF NIEMANN-PICK DISEASE - Google Patents

METHOD FOR THE DIAGNOSIS OF NIEMANN-PICK DISEASE

Info

Publication number
CY1122360T1
CY1122360T1 CY20191101122T CY191101122T CY1122360T1 CY 1122360 T1 CY1122360 T1 CY 1122360T1 CY 20191101122 T CY20191101122 T CY 20191101122T CY 191101122 T CY191101122 T CY 191101122T CY 1122360 T1 CY1122360 T1 CY 1122360T1
Authority
CY
Cyprus
Prior art keywords
niemann
diagnosis
pick disease
subject
pick
Prior art date
Application number
CY20191101122T
Other languages
Greek (el)
Inventor
Arndt Rolfs
Hermann Mascher
Original Assignee
Centogene Ag
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Centogene Ag filed Critical Centogene Ag
Publication of CY1122360T1 publication Critical patent/CY1122360T1/en

Links

Classifications

    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/92—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving lipids, e.g. cholesterol, lipoproteins, or their receptors
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N30/00—Investigating or analysing materials by separation into components using adsorption, absorption or similar phenomena or using ion-exchange, e.g. chromatography or field flow fractionation
    • G01N30/02—Column chromatography
    • G01N30/62—Detectors specially adapted therefor
    • G01N30/72—Mass spectrometers
    • G01N30/7233—Mass spectrometers interfaced to liquid or supercritical fluid chromatograph
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/04—Endocrine or metabolic disorders
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/52—Predicting or monitoring the response to treatment, e.g. for selection of therapy based on assay results in personalised medicine; Prognosis

Abstract

Η παρούσα εφεύρεση σχετίζεται με μια μέθοδο για τη διάγνωση της νόσου Niemann-Pick σε ένα υποκείμενο που περιλαμβάνει ένα στάδιο α), όπου το στάδιο α) περιλαμβάνει τον εντοπισμό ενός βιοδείκτη σε ένα δείγμα από το υποκείμενο.The present invention relates to a method for diagnosing Niemann-Pick disease in a subject comprising a step a), wherein step a) comprises detecting a biomarker in a sample from the subject.

CY20191101122T 2011-11-15 2019-10-30 METHOD FOR THE DIAGNOSIS OF NIEMANN-PICK DISEASE CY1122360T1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
EP11009062 2011-11-15
PCT/EP2012/004756 WO2013072060A2 (en) 2011-11-15 2012-11-15 Method for the diagnosis of niemann-pick disease
EP12790426.6A EP2780716B1 (en) 2011-11-15 2012-11-15 Method for the diagnosis of niemann-pick disease

Publications (1)

Publication Number Publication Date
CY1122360T1 true CY1122360T1 (en) 2021-01-27

Family

ID=47221301

Family Applications (1)

Application Number Title Priority Date Filing Date
CY20191101122T CY1122360T1 (en) 2011-11-15 2019-10-30 METHOD FOR THE DIAGNOSIS OF NIEMANN-PICK DISEASE

Country Status (11)

Country Link
US (4) US9910033B2 (en)
EP (1) EP2780716B1 (en)
JP (2) JP6243846B2 (en)
AU (3) AU2012339149A1 (en)
BR (1) BR112014009223B1 (en)
CA (1) CA2854668A1 (en)
CY (1) CY1122360T1 (en)
DK (1) DK2780716T3 (en)
IL (1) IL231982B (en)
MX (1) MX359328B (en)
WO (1) WO2013072060A2 (en)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2014153083A1 (en) 2013-03-14 2014-09-25 The United States Of America, As Represented By The Secretary, Department Of Health & Human Services Compositions and methods for predicting age of onset of a lysosomal storage disease or a disease associated with a lysosomal defect
BR112015030099A2 (en) * 2013-06-07 2017-07-25 Genzyme Corp marker for acid sphingomyelinase disorders and uses thereof
CA3002526A1 (en) 2014-10-28 2016-05-06 Washington University Bile acid biomarkers for niemann-pick diseases, methods and uses therefor
BR112017009605A2 (en) * 2014-11-19 2017-12-19 Centogene Ag method for diagnosing niemann-pick disease using a biomarker
US10656059B2 (en) 2018-03-07 2020-05-19 Alcala Pharmaceutical, Inc. Method for qualitative and quantitative multiplexing of drug analytes from biological samples
EP3803414A1 (en) 2018-06-01 2021-04-14 Laboratory Corporation of America Holdings Methods and systems for lc-ms/ms proteomic genotyping
CN111289647A (en) * 2020-03-09 2020-06-16 广州市妇女儿童医疗中心（广州市妇幼保健院、广州市儿童医院、广州市妇婴医院、广州市妇幼保健计划生育服务中心） Detection method of glucossphingosine
WO2024026390A2 (en) * 2022-07-28 2024-02-01 Wylder Nation Foundation Compositions and methods for diagnosing, treating, and preventing lysosomal storage diseases

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2003231220A1 (en) * 2002-04-30 2003-11-17 Saint Louis University A method for detecting lysosomal storage diseases
US8497122B2 (en) * 2008-04-11 2013-07-30 Washington University Biomarkers for Niemann-pick C disease and related disorders
US8313949B2 (en) 2009-04-16 2012-11-20 Nextcea Inc. Detecting phospholipidosis and diagnosing lysosomal storage disorders
BR112012004377A2 (en) * 2009-08-28 2017-12-12 Genzyme Corp Dose-progressing enzyme replacement therapy for the treatment of acid sphingomyelinase deficiency.

Also Published As

Publication number Publication date
AU2021204429B2 (en) 2024-01-25
AU2018229451B2 (en) 2021-04-01
EP2780716B1 (en) 2019-07-31
US11231412B2 (en) 2022-01-25
JP6711807B2 (en) 2020-06-17
DK2780716T3 (en) 2019-10-14
MX359328B (en) 2018-09-25
JP2018054620A (en) 2018-04-05
WO2013072060A3 (en) 2013-07-25
JP2014533367A (en) 2014-12-11
US20180088107A1 (en) 2018-03-29
US10422789B2 (en) 2019-09-24
AU2021204429A1 (en) 2021-07-29
US11841362B2 (en) 2023-12-12
BR112014009223A2 (en) 2017-06-13
US9910033B2 (en) 2018-03-06
WO2013072060A2 (en) 2013-05-23
IL231982B (en) 2020-01-30
EP2780716A2 (en) 2014-09-24
US20140309140A1 (en) 2014-10-16
AU2012339149A8 (en) 2014-05-08
JP6243846B2 (en) 2017-12-06
BR112014009223B1 (en) 2021-04-06
AU2018229451A1 (en) 2018-10-04
MX2014005923A (en) 2014-09-08
IL231982A0 (en) 2014-05-28
US20220187283A1 (en) 2022-06-16
CA2854668A1 (en) 2013-05-23
AU2012339149A1 (en) 2014-04-24
US20200072819A1 (en) 2020-03-05
WO2013072060A8 (en) 2014-07-17
BR112014009223A8 (en) 2017-06-20

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